Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country

A Single center Point Prevalence study

  • Hafsa Majid
  • Lena Jafri
  • Aysha Habib Khan
  • Zeb Zulfiqarali
  • Bushra Afroze Department of Paediatrics & Child Health, the Aga Khan University, Karachi
Keywords: Inherited metabolic disorder, survey, Pakistan, treatment, non-prescription, non-affordability, food for special medical purposes

Abstract

Objective: This study was done to determine the factors responsible for non-treatment of inherited metabolic disorders (IMDs) requiring food for special medical purposes (FSMPs) in Pakistan.

Methods: A descriptive cross-sectional study was conducted by Departments of Pediatrics & Child Health and Pathology & Laboratory Medicine, Aga Khan University. Patients diagnosed with IMDs from January 2013 to December 2016 requiring FSMPs were surveyed after a year of initial diagnosis to collect the details of treatment advised, mortality status, and reasons of non-treatment, including not prescribed by physician, non-acceptance by family, non-availability or non-affordability.

Results: Over four years period, 311 patients were identified with IMDs; Median age of patients was 1.0 yrs (0.0.2-3.65) with 54% (n=168) being male. Of the total 38.2% (n=119) required FSMPs, 9% (n=28) patients were excluded due to unavailability of diagnostics information. Parents of 58 patients requiring FSMPs out of 119 participated in survey. The leading causes of non-treatment were, FSMPs not prescribed by physicians (n= 30, 51.7%) followed by non-affordability (n=23, 39.6%), families’ unacceptance in (n=9, 18%) patients, non-availability of FSMPs (n=2, 3.4%) and early death of patient (n=1, 1.7%).

Conclusion: The main factors responsible for non-treatment of FSMPs requiring IMDs were non-prescription by physician and non-affordability.

doi: https://doi.org/10.12669/pjms.37.7.3887

How to cite this:
Majid H, Jafri L, Ali ZZ, Afroze B. Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country. Pak J Med Sci. 2021;37(7):1896-1901. doi: https://doi.org/10.12669/pjms.37.7.3887

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Published
2021-10-05
How to Cite
Majid, H., Jafri, L., Khan, A., Zulfiqarali, Z., & Afroze, B. (2021). Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country. Pakistan Journal of Medical Sciences, 37(7). https://doi.org/10.12669/pjms.37.7.3887
Section
Original Articles